Canonical Allele Identifier: CA2697548611
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 2729492
ClinVar RCV Id: RCV003499752
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758724G>C , CM000673.2:g.64758724G>C GRCh38
NC_000011.9:g.64526196G>C , CM000673.1:g.64526196G>C GRCh37
NC_000011.8:g.64282772G>C NCBI36
NG_013018.1:g.6992C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.244-20C>G MANE Select ENSP00000164139.3:n.244-20C>G
ENST00000164139.3:c.244-20C>G ENSP00000164139.3:n.244-20C>G
ENST00000377432.7:c.244-458C>G ENSP00000366650.3:n.244-458C>G
NM_001164716.1:c.244-458C>G NP_001158188.1:n.244-458C>G
NM_005609.2:c.244-20C>G NP_005600.1:n.244-20C>G
NM_005609.3:c.244-20C>G NP_005600.1:n.244-20C>G
NM_005609.4:c.244-20C>G MANE Select NP_005600.1:n.244-20C>G
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